Concepedia
Statistics
Publications
15
Citations
764
H-Index
13
Active since
2011
Affiliations
University of Tübingen(Current)
University of Bonn
Technical University of Munich
University Children's Hospital Tübingen
Heidelberg University
Stefanie Beck‐Woedl is an author at University of Tübingen specializing in genetics, molecular genetics, and life sciences.
Publications per year
2011–2024
Genetic and neurodevelopmental spectrum of <i>SYNGAP1</i>-associated intellectual disability and epilepsy
Cyril Mignot, Celina von Stülpnagel, Caroline Nava et al. · Journal of Medical Genetics · 2016 · 200 citations · Full text
Medicine, Genetics, Molecular Genetics +17
Next-generation sequencing in X-linked intellectual disability
Andreas Tzschach, Ute Grasshoff, Stefanie Beck‐Woedl et al. · European Journal of Human Genetics · 2015 · 149 citations
Life Sciences, Genetics, Molecular Genetics +14
<i>KCNC1</i>‐related disorders: new de novo variants expand the phenotypic spectrum
Joohyun Park, Mahmoud Koko, Ulrike B. S. Hedrich et al. · Annals of Clinical and Translational Neurology · 2019 · 68 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation
Ute Grasshoff, Michael von Bonin, Ina Goehring et al. · European Journal of Human Genetics · 2011 · 55 citations · Full text
Life Sciences, Genetics, Molecular Genetics +16
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia
Ralf A. Husain, Mona Grimmel, Matias Wagner et al. · The American Journal of Human Genetics · 2020 · 54 citations · Full text
Life Sciences, Genetics, Neurology +11
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